• Vascular Annual Meeting
• General Information
• Call for Abstracts
• Exhibitor Information
• Future Meeting Dates
• Past Meeting Information
• Contact Us

Home > Vascular Annual Meeting > black_peripheral_vascular

Peripheral Vascular Manifestations of Loeys-Dietz Syndrome: A New Syndrome of Aggressive Widespread Vascular Disease

James H. Black, III¹, Gretchen L. Oswald¹, Bart L. Loeys^2,1, Harry C. Dietz.^2,1
1Johns Hopkins University School of Medicine, Baltimore, MD;²Nathan-McCusick Institute for Genetic Medicine, Baltimore, Md.
 
OBJECTIVES: Loeys-Dietz Syndrome (LDS) is a recently described autosomal dominant aortic aneurysm syndrome due to heterozygous mutations involving the genes encoding transforming growth factor β receptors 1 and 2. While the risk of aortic root rupture and dissection exceeds that of most known connective tissue disorders, the disease has unique involvement of the peripheral vasculature. We sought to describe the peripheral vascular manifestations of patients affected by LDS.

METHODS: Clinical and radiologic examinations of 68 LDS patients were retrospectively reviewed from the reporting institution for affected vascular territories, presence of tortuousity or aneurysm, growth rates, and clinical outcome.

RESULTS: Mean patient age was 20.2 years±16.5 years (interquartile range, 8-30). The LDS phenotype of aortic root aneurysm and craniofacial abnormality was noted in 65 patients (95%), including hypertelorism (80%) and a broad/bifid uvula or cleft palate (86%). Asymptomatic carotid tortuousity, without aneurysm, was the most common peripheral finding in 44 patients (65%). Subclavian or vertebral tortuousity, without aneurysm, was appreciated in 14 patients (25%) and with aneurysm in 6 patients (8%). Proximal descending thoracic aortic aneurysm was noted in 24 patients (35%) with an average growth rate of 1.8 mm/yr. Abdominal aortic tortuousity was noted in 9 patients (13%) with combined aneurysm in 5 patients (7%). Infrarenal aortic centerline measurements were increased 1.4-2.0 fold (range, 130-160 mm). Iliac and femoropopliteal aneurysms were infrequently encountered in 6 patients and 2 patients (8%, 3% respectively). While aortic root replacement predominated as a surgical event (31 patients, 45%), 9 repairs of the descending aorta or abdominal aorta have occurred with one intraoperative death due to aortic fragility during emergent reconstruction.

CONCLUSIONS: Loeys-Dietz Syndrome is phenotypically characterized by craniofacial abnormality, arterial tortuousity, and aneurysm. Early recognition is helpful in timing prophylactic intervention, and regular surveillance of the entire peripheral vasculature is mandatory.

AUTHOR DISCLOSURES: J.H. Black, None; G.L. Oswald, None; B.L. Loeys, None; H.C. Dietz, None.